Gaucher Disorder-Gaucher disease is an inherited metabolic disorder that leads to the accumulation of a particular fatty substance throughout the body.GD, like other similar metabolic disorders, is referred to as a storage disease, due to the accumulation, or storage, of material in the body. The accumulation is the result of a deficiency of the enzyme acid beta-glucocerebrosidase, which is necessary to break down a particular lipid, glucosyl ceramide.As it accumulates, the glucosyl ceramide is stored in the scavenger cells of the body, which, taking on a characteristic appearance unique to those affected with this disorder, are called "Gaucher cells." This lipid, which is normally present in only small amounts, may accumulate in the spleen, liver, bone marrow, brain, and the lungs.
Description of Gaucher's Disease named for Dr. Philippe C.E. Gaucher, a French physician who first described the disease in 1882, Gaucher disease (GD) is a disorder that leads to the accumulation of a particular lipid.Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase.This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Gaucher Disorder-Gaucher disease is an inherited metabolic disorder that leads to the accumulation of a particular fatty substance throughout the body.GD, like other similar metabolic disorders, is referred to as a storage disease, due to the accumulation, or storage, of material in the body. The accumulation is the result of a deficiency of the enzyme acid beta-glucocerebrosidase, which is necessary to break down a particular lipid, glucosyl ceramide.As it accumulates, the glucosyl ceramide is stored in the scavenger cells of the body, which, taking on a characteristic appearance unique to those affected with this disorder, are called "Gaucher cells." This lipid, which is normally present in only small amounts, may accumulate in the spleen, liver, bone marrow, brain, and the lungs.
Description of Gaucher's Disease named for Dr. Philippe C.E. Gaucher, a French physician who first described the disease in 1882, Gaucher disease (GD) is a disorder that leads to the accumulation of a particular lipid.Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase.This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.